Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl

by Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao
Published 2019-09-01

WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis

by Qiuhong Xiong, Xin Li, Wenjing Li, Guangxin Chen, Han Xiao, Ping Li, Changxin Wu
Published 2021-05-01

Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2

by Abidi, Affef
Published 2016

Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction

by Barrett J. Burger, Shannon Rose, Shannon Rose, Sirish C. Bennuri, Sirish C. Bennuri, Pritmohinder S. Gill, Marie L. Tippett, Marie L. Tippett, Leanna Delhey, Leanna Delhey, Stepan Melnyk, Stepan Melnyk, Richard E. Frye, Richard E. Frye
Published 2017-10-01

Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases

by N. Yu. Perunova, M. Yu. Bobylova, T. M. Prygunova
Published 2020-05-01